De novo yapısal kromozom anomalilerinin ve marker kromozomların kökenlerinin“multiprobe slide”tekniği ile araştırılması
Identification of de novo structural chromosome abnormalities and marker chromosomes using“multiprobe slide”tecnique
- Tez No: 86449
- Danışmanlar: PROF. DR. SEHER BAŞARAN
- Tez Türü: Yüksek Lisans
- Konular: Tıbbi Biyoloji, Medical Biology
- Anahtar Kelimeler: FISH, Kromozom düzensizlikleri, Kromozomlar-insan, Sitogenetik, FISH, Chromosome aberrations, Chromosomes-human, Cytogenetics
- Yıl: 1999
- Dil: Türkçe
- Üniversite: İstanbul Üniversitesi
- Enstitü: Sağlık Bilimleri Enstitüsü
- Ana Bilim Dalı: Tıbbi Genetik Ana Bilim Dalı
- Bilim Dalı: Belirtilmemiş.
- Sayfa Sayısı: Belirtilmemiş.
Özet
Bu çalışma Multiprobe slide tekniğinin FISH uygulanan tüm laboratuvarlarda kolaylıkla uygulanabilecek, doğru prob seçimi sorunu yaşanmayan, hızlı ve uygun protokollerin uygulanması ve FISH uygulamalarının kombinasyonu ile ekonomik bir uygulama olduğunu gösterdi. 9
Özet (Çeviri)
Standard cytogenetic techniques do not always enable to ascertain the chromosomal origin of marker chromosomes and to identify de novo structural abnormalities. The introduction of molecular cytogenetic techniques has greatly increased the possibility for characterization of such abnormalities and particularly fiiorescent in situ hybridization (FISH) has revolutionized cytogenetics. In standard FISH technology, the choice of chromosome specific unique sequence probes depends on the banding pattern of the related chromosome abnormality and on the clinical findings of the patient. So far this approach has presented some diagnostic problems and the use of several different probes for the accurate identification of marker chromosomes and structural de novo abnormalities has been found to be time consuming, tedious and expensive. Advances in technology has made new approaches available for molecular cytogenetics and led to the introduction of new FISH techniques such as M-FISH, reverse FISH etc. However, these techniques have not been amenable for use in routine cytogenetic diagnostic laboratories because of being too costly and demanding more experience than needed in standard FISH. By contrast another innovative FISH based diagnostic technique developed by Cytocell company, has allowed the simultaneous analysis of each chromosome using only a single microscope slide per patient.This commercially available product“Chromoprobe Multiprobe System”consist of a kit comprising a coverslip with individual paints, telomeric or chromosome specific repetitive sequence probes of 24 chromosomes dried onto 24 raised“bosses”which is inverted onto a slide flooded with chromosome material. In our cytogenetic laboratory equipped for FISH studies, we planned to test the reliability and efficiency of this technique which requires no novel or expencive equipment or materials. In the present study, we determined by“Chromoprobe Multiprobe System”the origin of supernumerary marker chromosomes or de novo structural abnormalities in 17 cases of which 3 were prenatally and 14 were postnatally karyotyped in our laboratory or in other centers. 92
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